ClinVar Miner

Submissions for variant NM_003920.5(TIMELESS):c.3435G>A (p.Ala1145=)

gnomAD frequency: 0.00441  dbSNP: rs61937716
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968479 SCV001115937 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968479 SCV004133483 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing TIMELESS: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000968479 SCV005233087 benign not provided criteria provided, single submitter not provided

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